EUS-guided transrectal drainage of pelvic abscesses: a retrospective analysis of 17 patients.

Background: Pelvic abscess is a common complication of abdominal surgery or intestinal or gynecological diseases. Over the last decades, endoscopic ultrasound (EUS)-guided drainage has emerged as a minimally invasive alternative to percutaneous or surgical treatment of pelvic abscesses. Aim: To evaluate safety and efficacy of EUS-guided transrectal pelvic abscess drainage in a single center. Methods: From February 2017 to April 2023, all data on patients who were treated for pelvic abscesses by EUS-guided drainage in a single center, were retrospectively analyzed. Results: A total of 17 patients were treated for pelvic abscesses by EUS-guided drainage. The procedure was technically successful and uneventful in all 17 patients (100%). Etiology of the abscess was postsurgical (n=5, 29%), secondary to medical illness (n=10, 59%) or gastrointestinal perforation (n=2, 12%). The abscess was multilocular in 5 patients (29%), the mean largest diameter was 76 mm (range 40-146 mm). Drainage was performed using 2 double pigtail stents, and in 1 patient an additional 10 Fr drainage catheter was deployed. Two patients (12%) required a second endoscopic intervention. Treatment success, defined by complete abscess resolution on follow-up CT scan along with symptom relief, was 100%. There was no need for surgical intervention. The median post-procedural hospital stay was 5 days. No recurrence was reported within a median time of follow-up of 39 months. Conclusion: EUS-guided transrectal drainage of pelvic abscesses using double pigtail stents is safe and highly effective. This case series contributes to the cumulative evidence that, in expert hands, EUS-guided drainage should be considered as first-line approach for treatment of pelvic abscesses.

[Sustainability in Flemish and Dutch mental health care]. / Duurzaamheid in de Vlaamse en Nederlandse ggz.

BACKGROUND: The Flemish and Dutch (mental) health sectors cause greenhouse gas emissions and therefore will have to make an effort to reduce their climate impact. AIM: To assess whether differences can be found in the climate policies of Flemish and Dutch mental health institutions. METHOD: Descriptive research based on a sustainability questionnaire, in which concrete actions, objectives and ambitions in the field of sustainability were questioned at Flemish and Dutch mental health institutions. RESULTS: 59% and 38% of respectively the Flemish and Dutch institutions fully agreed that sustainability is a very important theme (with a main focus on sustainable energy transition and recycling in both regions). Statistically significant differences between both regions were only found with regard to fostering more sustainable commuting (stronger in Flanders; p < 0.0001). The climate impact of medicines and food, as well as investments in sustainable projects, received little attention. CONCLUSION: Although a substantial part of Flemish and Dutch mental health institutions consider sustainability (very) important, a systemic ‘transformation’ will be necessary to make them climate neutral.

Systematic review of the registered clinical trials for oncological hyperthermia treatment.

BACKGROUND: The use of heat to treat various diseases is called hyperthermia treatment (HT). Since the 1970s, the anti-cancer effects of HT have been investigated. Different HT techniques can be categorized as local, regional and whole-body hyperthermia treatment (WBHT). We aim to provide a summary of recent research done on HT to treat cancer. METHODS: In July 2020 ClinicalTrials.gov were systematically searched for all trials including hyperthermia and cancer registered between 2000 and 2020. Studies were excluded when they did not concern hyperthermal treatment, when they were not oncological studies, when they were observational or other non-interventional studies. RESULTS: Of 1654 identified trials, 235 were included. Of these 235 studies, 123 described the use of HIPEC (52.3%), 44 other types of regional HT (18.7%), 45 local HT (19.1%) and 15 WBHT (6.4%). A steady increase (720%) in research to hyperthermic intraperitoneal chemotherapy (HIPEC) can be observed in the last decade. Although HIPEC is the most researched HT modality, an evolution in other HT technologies could be observed during the past decade. CONCLUSIONS: Research to HT to treat cancer has expanded fast. Some techniques, for example HIPEC start to be used outside of research context, but overall, more research is needed to establish a clear effect of these HT techniques.

Prevalence and characteristics of systemic conditions in patients undergoing orthognathic surgery: a retrospective study.

The aim of this study was to investigate the prevalence and characteristics of systemic conditions in patients undergoing orthognathic surgery at a tertiary centre. Ninety of the 838 patients undergoing orthognathic surgery between 2013 and 2019 had a systemic condition (prevalence of 10.7%). The most prevalent categories of systemic conditions were inflammatory joint disorders, endocrinological disorders, and syndromes. Patients with syndromes were significantly younger at the time of surgery than patients with endocrinological (P < 0.001), inflammatory joint (P = 0.003), or gastrointestinal disorders (P = 0.033). Endocrinological disorders, syndromes, and malignancies were more frequently associated with a skeletal class III malocclusion (P = 0.009, P < 0.001, and P = 0.048 respectively). Further research is needed to clarify the role of systemic conditions in the aetiology of malocclusion and postoperative outcomes.

Preventing taxane-related peripheral neuropathy, pain and nail toxicity: a prospective self-controlled trial comparing hilotherapy with frozen gloves in early breast cancer.

PURPOSE: The prevention of taxane-related toxicities at the extremities is highly important for patients' treatment and quality-of-life. Several studies endorse hand/foot-cooling using frozen gloves as a prophylactic intervention. Unlike frozen gloves, hilotherapy produces cooling at a constant temperature. Comparative data with frozen gloves are unavailable. METHODS: This prospective self-controlled study explores the efficacy of hilotherapy at the right hand and foot compared to frozen gloves at the left in patients with early breast cancer treated with weekly paclitaxel 80 mg/m2 or three-weekly docetaxel 75 mg/m2. Patient-reported outcomes were collected at baseline, 6, 12, 18 and 24 weeks after the start of treatment. Primary and secondary endpoints were the incidence of any-grade and ≥ grade 2 side-effects (peripheral neuropathy, pain and nail toxicities), and perceived comfort of both interventions. RESULTS: Sixty-two patients participated. The incidence of any-grade side-effects was similar on both sides, 85.5% with hilotherapy and 90.3% with frozen gloves (p = 1.000). The incidence of ≥ grade 2 side-effects at the extremities was significantly lower with hilotherapy: 43.6% compared to 61.3% with frozen gloves (p = 0.013). Perceived comfort was significantly better for hilotherapy than for frozen gloves (p < 0.0001). CONCLUSIONS: Compared to frozen gloves, continuous cooling of hands and feet using hilotherapy produces better prevention of ≥ grade 2 patient-reported side-effects at the extremities (peripheral neuropathy, pain and nail toxicities). Perceived comfort was significantly better for hilotherapy. From a clinical and patient perspective, hilotherapy is a better alternative for preventing clinically significant taxane-related side-effects.

Automatic 3D dense phenotyping provides reliable and accurate shape quantification of the human mandible.

Automatic craniomaxillofacial (CMF) three dimensional (3D) dense phenotyping promises quantification of the complete CMF shape compared to the limiting use of sparse landmarks in classical phenotyping. This study assesses the accuracy and reliability of this new approach on the human mandible. Classic and automatic phenotyping techniques were applied on 30 unaltered and 20 operated human mandibles. Seven observers indicated 26 anatomical landmarks on each mandible three times. All mandibles were subjected to three rounds of automatic phenotyping using Meshmonk. The toolbox performed non-rigid surface registration of a template mandibular mesh consisting of 17,415 quasi landmarks on each target mandible and the quasi landmarks corresponding to the 26 anatomical locations of interest were identified. Repeated-measures reliability was assessed using root mean square (RMS) distances of repeated landmark indications to their centroid. Automatic phenotyping showed very low RMS distances confirming excellent repeated-measures reliability. The average Euclidean distance between manual and corresponding automatic landmarks was 1.40 mm for the unaltered and 1.76 mm for the operated sample. Centroid sizes from the automatic and manual shape configurations were highly similar with intraclass correlation coefficients (ICC) of > 0.99. Reproducibility coefficients for centroid size were < 2 mm, accounting for < 1% of the total variability of the centroid size of the mandibles in this sample. ICC's for the multivariate set of 325 interlandmark distances were all > 0.90 indicating again high similarity between shapes quantified by classic or automatic phenotyping. Combined, these findings established high accuracy and repeated-measures reliability of the automatic approach. 3D dense CMF phenotyping of the human mandible using the Meshmonk toolbox introduces a novel improvement in quantifying CMF shape.

Venous thromboembolism in patients with inflammatory bowel disease: review of literature and practical algorithms.

Inflammatory bowel disease (IBD) is associated with several extra-intestinal complications, including venous thromboembolism (VTE). In patients with IBD, VTE occurs at younger age and is associated with higher recurrence and mortality rates as compared to patients without IBD. The risk appears to be higher during active disease and hospitalization. In this review we target the importance of prophylaxis and aim to describe strategies for treatment of VTE in patients with IBD. More awareness is needed, given the fact that VTE is often preventable with appropriate pharmacological prophylaxis. Algorithms are provided on which patients should be given prophylaxis and on treatment duration of VTE in patients with inflammatory bowel disease.

The first parent-child diagnosis of a multifocal squamous odontogenic tumor: A case report.

Squamous odontogenic tumors (SOT) are rare, benign, odontogenic neoplasms of the jaws. The sporadically reported cases with multifocal SOTs seem to have a marked predilection for younger African American patients. In this case report a 14-year-old Caucasian male presented with swelling of the vestibular alveolar process, slight tooth divergence, and mobility. A multifocal squamous odontogenic tumor was diagnosed and subsequently treated twice with surgical enucleation. Two and a half years earlier his mother was diagnosed and treated for a similar multifocal SOT. Next-Generation-Sequencing targeted resequencing mutational analysis of the maternal surgical specimens was performed. No potential causal mutation could be identified. Postoperative follow-up of the patient showed no recurrence of the SOT after 2 years. This case report substantiates the possibility of a familial relationship in (multifocal) SOT, possibly changing current ideas concerning the etiology and treatment of these neoplasms.

Monoclonal gammopathy of renal significance (MGRS) histopathologic classification, diagnostic workup, and therapeutic options.

Monoclonal gammopathy of renal significance (MGRS) includes all kidney disorders caused by a monoclonal protein (M-protein) secreted by a small plasma cell clone or other B-cell clones in patients who do not meet the diagnostic criteria for multiple myeloma or other B-cell malignancies. The underlying disorder in patients with MGRS is generally consistent with monoclonal gammopathy of undetermined significance (MGUS). MGRS-associated kidney disorders are various and the list is still expanding. The kidney disorders can manifest as glomerular diseases, tubulopathies, and vascular involvement with varying clinical presentations. Diagnosis is often challenging because of the wide spectrum of MGRS, and it is difficult to establish a pathogenic link between the presence of the M-protein or serum free light chains and kidney diseases; further complicating accurate diagnosis is the high incidence of MGUS and/or kidney disorders, independent of MGRS, in elderly patients. However, MGRS can significantly impair kidney function. Because treatment can stop and also reverse kidney disease, early recognition is of great importance. A combined haematologic and nephrologic approach is crucial to establish the causative role of the M-protein in the pathogenesis of kidney disease. Clone-directed therapy, which may include autologous stem cell transplantation in eligible patients, often results in improved outcomes. In this review, we discuss the histopathologic classification of MGRS lesions, provide a renal and haematologic diagnostic workup, discuss treatment options for MGRS, and introduce a Benelux MGRS Working Group.

[Adolescent with a schizophreniform disorder and recurrent 16p11.2 duplication]. / Adolescent met schizofreniforme stoornis en terugkerende 16p11.2-duplicatie.

Genetic factors play an important role in the development of psychotic disorders. With increasing evidence, several rare copy number variants (cnvs) have been identified as risk factors. We describe a patient who had two psychotic episodes during his adolescence. In this patient, a 16p11.2 duplication was detected. This duplication is a recurrent cnv associated with various somatic and psychiatric phenotypes including psychosis and schizophrenia. The potential clinical relevance of this finding is discussed.

Fecal microbiota transplantation in ulcerative colitis.

BACKGROUND/STUDY AIMS: Fecal microbiota transplantation (FMT), a treatment aiming to restore dysbiosis by transferring stool from a healthy donor into the patient, has cure rates up to 90% in the management of recurrent Clostridium difficile (C. difficile) diarrhea. This paper tries to determine whether FMT is safe and effective in the treatment of ulcerative colitis, and what the potential characteristics could be of a 'super donor'. METHODS: The PubMed database was searched using the term fecal microbiota transplantation inflammatory bowel disease. Only articles discussing the use of FMT in the treatment of ulcerative colitis were withheld. Finally, 31 original studies (10 case reports, 17 open label trials, 4 randomized controlled trials (RCTs)) and 1 meta-analysis were included. RESULTS: So far 4 RCTs have investigated the effectiveness of FMT in treating UC. Three RCTs reported a significant difference between FMT and a control group, achieving clinical remission in 24 to 44% of patients (vs. 5 to 20% of patients in control groups). The meta-analysis confirms that significantly more patients in the FMT-group achieve clinical remission in comparison to patients in the control group (p=0,01) : 42,1% vs. 22,6%. The composition of the gut microbiota plays an important role in the success of FMT-treatment. CONCLUSION: FMT seems to be a promising and safe therapy in the management of UC. Further research, with larger cohorts, will be needed to confirm this and to determine the optimal FMT procedure.

Efficacy of switching to infliximab in patients with Crohn's disease with loss of response to adalimumab.

BACKGROUND AND STUDY AIMS: Anti-TNF monoclonal antibodies are a cornerstone in the treatment of Crohn's disease. Prospective data on switching from the subcutaneous and human adalimumab (ADM) to the intravenous and chimeric infliximab (IFX) are scarce. PATIENTS AND METHODS: In this prospective, observational, multicentre cohort study we included 21 patients with loss of response to ADM despite at least 4 consecutive weekly injections. Clinical response (CDAI drop≥70 points) and remission (CDAI≤150) were assessed after switching from ADM to IFX after 10 weeks, 6 and 12 months. Predictive factors of response/remission, the need for therapy intensification, discontinuation and safety were investigated. RESULTS: Short-term response and remission (10 weeks) were seen in 57% and 48% respectively. Mid- and long-term clinical response and remission were achieved in 40% and 25% after 6 months and in 45% and 20% after 12 months respectively. At 12 months, 81% still were on IFX. IFX therapy intensification was needed in half of the patients at 6 months and three quarter of patients at 12 months. Undetectable ADM trough levels (despite weekly injections) were a predictive factor for short-term response and remission to IFX. About half of the patients with response at week 10 maintained response at 6 and 12 months. CONCLUSIONS: Switching from ADM to IFX can be efficacious in patients with loss of response, in particular in case of undetectable ADM trough levels. The majority of patients however will need IFX therapy intensification during their first year of treatment.

A case of regional migratory osteoporosis.

We present the case of a middle-aged man with three episodes of regional migratory osteoporosis of the lower extremities occurring over a period of 8 years. Symptoms included a sudden onset of unilateral bone and joint pain. After initiation of pamidronate treatment, symptoms improved significantly. Regional migratory osteoporosis is a rare, but probably underdiagnosed condition with an unclear etiology. This case illustrates the importance of recognition of the disease in order to inform the patient, start treatment, and prevent unnecessary invasive procedures. Although in literature, not much is reported about treatment strategies, our patient was successfully treated with pamidronate after failure of oral bisphosphonates.

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non dysmorphic' or 1 for 'uncertain'. The inter-rater agreement was determined using kappa coefficient. There was only fair agreement between African and European raters (kappa-coefficient = 0.29). Second, we applied the FDNA Face2Gene solution to assess Down Syndrome (DS) faces. Initially, Face2Gene showed a better recognition rate for DS in Caucasian (80%) compared to African (36.8%). We trained the Face2Gene with a set of African DS and non-DS photographs. Interestingly, the recognition in African increased to 94.7%. Thus, training improved the sensitivity of Face2Gene. Our data suggest that human based evaluation is influenced by ethnic background of the evaluator. In addition, computer based evaluation indicates that the ethnic of the patient also influences the evaluation and that training may increase the detection specificity for a particular ethnic.

Clinical implementation of NIPT - technical and biological challenges.

Non-invasive prenatal testing (NIPT) for fetal aneuploidy detection is increasingly being offered in the clinical setting. Whereas the majority of tests only report fetal trisomies 21, 18 and 13, genome-wide analyses have the potential to detect other fetal, as well as maternal, aneuploidies. In this review, we discuss the technical and clinical advantages and challenges associated with genome-wide cell-free fetal DNA profiling.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive deficits associated with Trisomy 21. Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations. To understand the phenotypic spectrum associated with DYRK1A mutations, we resequenced the gene in 7162 ASD/DD patients (2446 previously reported) and 2169 unaffected siblings and performed a detailed phenotypic assessment on nine patients. Comparison of our data and published cases with 8696 controls identified a significant enrichment of DYRK1A truncating mutations (P=0.00851) and an excess of de novo mutations (P=2.53 × 10(-10)) among ASD/intellectual disability (ID) patients. Phenotypic comparison of all novel (n=5) and recontacted (n=3) cases with previous case reports, including larger CNV and translocation events (n=7), identified a syndromal disorder among the 15 patients. It was characterized by ID, ASD, microcephaly, intrauterine growth retardation, febrile seizures in infancy, impaired speech, stereotypic behavior, hypertonia and a specific facial gestalt. We conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models.

Review: Facial endophenotypes in non-syndromic orofacial clefting.

Cleft lip and/or palate (CL/P) is one of the most frequent congenital malformations, with a frequency of 1 in 700 live births. Non-syndromic orofacial clefting is a multifactorial condition, with both a genetic and an environmental component. Although numerous studies have been published addressing the genetic etiology of CL/P, this factor remains incompletely understood. A promising approach to find candidate gene regions for CL/P is the investigation of endophenotypes, which are characteristics associated with a certain condition and that can be an expression of underlying susceptibility genes. This review focuses on the known facial endophenotypes in CL/P (such as distortion of the orbicularis oris muscle and facial features in non-affected relatives of patients with CL/P) and genes that could be associated with these characteristics. Possibilities for further endophenotype-related studies in the field of non-syndromic CL/P are discussed.

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate.

Evidence exists for the presence of a specific facial phenotype in nonaffected first-degree relatives of persons with CL/P. An increased risk for olfactory dysfunction has also been reported in CL/P-relatives. These phenotypic features can probably be explained via the presence of CL/P-related susceptibility genes. We aimed at confirming the occurrence of these endophenotypic traits in first-degree CL/P-relatives, and we investigated the link between the facial phenotype and the smell capacity in this group. We studied the facial morphology of 88 nonaffected first-degree relatives of patients with CL/P and 33 control subjects without family history of facial clefting by 3D surface imaging and a spatially dense analysis of the images. Smell testing was performed in 30 relatives and compared with 23 control subjects. Nonaffected relatives showed midface retrusion, hypertelorism, and olfactory dysfunction, compared to controls. In addition, we show for the first time that olfactory dysfunction in relatives is correlated to a smaller upper nasal region. This might be explained by a smaller central olfactory system. The different facial morphology in the relatives with olfactory impairment as compared to the total group may be an illustration of the contribution of different genetic backgrounds to the occurrence of CL/P via different biological pathways.

Laparoscopic cholecystectomy in acute cholecystitis: support for an early interval surgery.

BACKGROUND AND STUDY AIMS: Although laparoscopic cholecystectomy is advocated for acute cholecystitis, debate still exists about its optimal timing. This retrospective study compares the outcome of laparoscopic cholecystectomy within versus later than 5 days of onset of symptoms in patients with acute cholecystitis. PATIENTS AND METHODS: One hundred thirty six patients with acute cholecystitis grade I or II were included in the study and divided in two groups. Group 1 received surgery within 5 days of symptoms and group 2 received conservative therapy and delayed surgery after 6 weeks. RESULTS: Group 1 and 2 consisted of 100 and 36 patients respec- tively. Because of failure of conservative therapy 5 patients of group 2 had surgery before 6 weeks. The remaining 31 patients underwent surgery after 6 weeks. Preoperative ERCP was indicated in 2 and 11 patients in groups 1 and 2 respectively (p < 0.001). The median total hospital stay was 3.0 days for group 1 and 11.0 days for group 2 (p < 0.001). In terms of operation time, conversion rates, intraoperative cholangiography, postoperative ERCP, morbidity or mortality both groups were comparable (p > 0.05). CONCLUSION: Laparoscopic cholecystectomy can be performed safely within 5 days after the onset of symptoms in patients with acute cholecystitis. Because of shortened total hospital stay and risk of failure of conservative therapy, early laparoscopic cholecystectomy should be favored.